Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory diff iculties. It is often fatal in the early life. We report an affected 8-year-old boy, who has presented with severe neurological manifestations since birth, but without clinically-significant seizure. Molybdenum cofactor def iciency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.
|Journal||Singapore Medical Journal|
|Publication status||Published - Oct 2009|
- Molybdenum cofactor deficiency
- Uric acid
- Urine sulphite